Help Spina bifida!

[Hosh19]

Hope someone can give me some guidance or advice! My sister is 22 weeks pregnant with her first baby (boy) it’s taken her 10 years to conseve it finally happend and her 3 month scan came back completely fine he was looking nice and healthy, she had her 20 scan yesterday (she is now 22 weeks) they found his brain on one side is measuring 17mm she was sent to hospital today and was told he has ‘open sacral spina bifida’ which though googling we have found it’s a serve case. Has anyone else had this or a similar diognosis? We have no idea about it and are completely in the dark in terms of life exceptance, servival percentages, quality of life where to go from here? She is doesn’t want to terminate. We are completely deverstated for her!! Comments would be much appreciated!

Firstly step away from google. No one posts on google "I was worried about this and there was nothing to worry about".

Secondly talk to your consultant. See if there is a charity you can connect to-other parents can often be more helpful in real terms than consultants.

Let your sister grieve. Nearly 16 years ago we found on the 20 week scan dd2 was missing her hand. That is nothing like a severe you're going through, but it was still at the time devastating. It's like going through grief. You are mourning the child you thought you had and readjusting the ideas you had.
Comments like "You're such a special mother to be chosen to have a special child" are nothing more than a platitude to make the speaker feel better about themselves.
Grieve with her, and when he is born celebrate his arrival as a baby. Not as a disabled baby, but a baby for whom you will love always.

It may be that they can't give answers to your questions until baby is here and they can examine him in person. I know very little, but I do know that spina bifida has degrees and it's not always clear until they're born how badly they will be effected.

(((hugs))) for both of you.

I’ve known many children with spina bifida. It used to be quite common before abortion became more acceptable and easier to access.
An open sacral spina bifida is severe. It does cause significant disability but the exact extent is variable.
One of my friends has a child with Down Syndrome; she said the hardest bit for her was nobody congratulating her or celebrating the birth of her child. Most people were just embarrassed. I’d urge you to not be too devastated for her if she has chosen to continue with the pregnancy. Yes, she will need love and support but it is still her beautiful baby over and above the disability.
The baby will need to be moved to a specialist centre for proper assessment shortly after birth. Some places that’s quite close by for other areas it’s at a distance. She’ll need very practical support then as well as emotional support.
Often spina bifida is associated with hydrocephalus (fluid on the brain). This can be managed usually with a valve that drains excess fluid into the circulation.

Quality of life depends who you’re asking and how you’re judging. There may be paralysis of the lower limbs and that is obviously limiting but children cope surprisingly well with varying degrees of physical disability. I’ve known some very happy and content children and teenagers with spina bifida. It is undoubtedly hard work for the parents but I’ve never met anyone who would rather not have had their child.
You can’t really tell how severe the impact will be at this point but it would be wrong to suggest it might be very minor problems.

Medicine is making rapid advances and recently a baby was operated on in the womb to close the spine in London. That might be worth discussing with the obstetric team. It’s incredibly rare and very recently developed surgery, so not without risks but there is no harm in having the discussion. I certainly would want to know whether it was a possibility.
www.gosh.nhs.uk/news/first-uk-surgery-womb-baby-spina-bifida

Where do you go? You could contact Shine the National association
www.shinecharity.org.uk
You could suggest your family ask to speak to a paediatrician before the birth.
You could ask to visit a children’s hospice and speak to staff about the ongoing support and respite they offer. I think a child with a severe spina bifida would meet their acceptance criteria for most areas- not because the child is needing end of life care but because it can have an impact on life expectancy. They are fabulous places and great fun as well as very skilled at providing for families with children in need of ongoing respite.

Your sister needs to think about managing this 20 + years into the future, not just a baby.

A good friend of mine has a 6 year old with a severe case of it, doctors even used the word vegetable when describing what her life would be. Her life is rich and full, sadly it does involve operations but she lives a very happy and full life

There is a really good group on facebook for parents of children with spina bifida and/or hydrocephalus. Also there is a charity called shine which is really good for information and support. My 5 year old has hydrocephalus and I've found both of those really useful.

I have worked with several children with SB and one of my friend's daughters has it (I work with children who have disabilities).
There will be lots of operations...but also potentially a perfectly decent life ahead. Yes almost certainly a wheelchair but that's just method of getting around ..my friend's dd is a teen now, has a nice powerchair, a social life, a weakness for hair dye..in other words a typical teen in most ways, although she has missed a fair bit of school for ops on spine, and rerouting bladder and bowel stuff.

The best thing your sister can do is get as much info as she can, get infomed, get supported..and prepare to meet her little boy with a bit more drama that usual (unless they can do the in utero op...) and then just adore him and take every day as it comes.

Get her to contact Shine, as others have suggested and get more information. Sacral spina bifida has its problems, but there will be lots of things he can do. Spina bifida varies so much between person to person, but the lower down the back it is, the fewer problems it causes.